PSEN1 c.1237_1238delinsCT ;(p.A413L)

Variant ID: 14-73683941-GC-CT

NM_000021.3(PSEN1):c.1237_1238delinsCT;(p.A413L)

This variant was identified in 1 publication

View GRCh38 version.




Publications:


Presenilin transmembrane domain 8 conserved AXXXAXXXG motifs are required for the activity of the γ-secretase complex.

The Journal Of Biological Chemistry
Marinangeli, Claudia C; Tasiaux, Bernadette B; Opsomer, Rémi R; Hage, Salim S; Sodero, Alejandro O AO; Dewachter, Ilse I; Octave, Jean Noël JN; Smith, Steven O SO; Constantinescu, Stefan N SN; Kienlen-Campard, Pascal P
Publication Date: 2015-03-13

Variant appearance in text: PS1: A413L
PubMed Link: 25614624
Variant Present in the following documents:
  • Main text
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